在7号外显子下游插入了一个带有frt和loxP切割位点的neo cassette。9号外显子被替换为一个点突变型,由TAC变为TTC,导致第293位氨基酸由苯丙氨酸(Phe)变为酪氨酸(Tyrosine,Y293F)。这个等位基因包含一个磷酸化无效突变。(来源:J:153247)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Single point
--
1
5
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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